title: Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy.
abstract: Iron overload may lead to neurodegenerative disorders such as Parkinson's disease (PD) and alterations of iron-related genes might be involved in the pathogenesis of this disease. The gene of haemochromatosis (HFE) encodes the HFE protein which interacts with the transferrin receptor (TFR), lowering its affinity for iron-bound transferrin (TF). We examined four known polymorphisms, C282Y and H63D in the HFE gene, G258S in the TF gene and S82G in the TFR gene, in 181 sporadic PD patients and 180 controls from Southern Italy to investigate their possible role in susceptibility to PD. No significant differences were found in genotype and allele frequencies between PD and controls for all the polymorphisms studied, suggesting that these variants do not contribute significantly to the risk of PD.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Contrada Burga, 87050 Mangone, Cosenza, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Greco
authors.forename: Elvira Valeria
authors.initials: EV
authors.lastname: De Marco
authors.forename: Francesca Emanuela
authors.initials: FE
authors.lastname: Rocca
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Provenzano
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Vittorio
authors.initials: V
authors.lastname: Scornaienchi
authors.forename: Franco
authors.initials: F
authors.lastname: Pucci
authors.forename: Maria
authors.initials: M
authors.lastname: Salsone
authors.forename: Fabiana
authors.initials: F
authors.lastname: Novellino
authors.forename: Maurizio
authors.initials: M
authors.lastname: Morelli
authors.forename: Sandra
authors.initials: S
authors.lastname: Paglionico
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods*; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D011990:Receptors, Transferrin / Q000235:genetics*; D014168:Transferrin / Q000235:genetics* / Q000378:metabolism
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; D014168:Transferrin